Study of Bone and Joint Features in Patients Diagnosed with Gitelman Syndrome and Calcium Pyrophosphate Deposition

What this Trial Is About

This research investigates the osteoarticular features in patients who have clinically and genetically confirmed Gitelman Syndrome. The study focuses on screening these patients for calcium pyrophosphate deposition disease CPPD and collecting clinical data and imaging findings to better understand joint and bone manifestations associated with this condition. Participants diagnosed with Gitelman Syndrome undergo screening for CPPD using conventional radiographs or computed tomography scans. These imaging tests help detect signs of chondrocalcinosis, which is the calcification of cartilage, a key feature of CPPD. During the study, researchers gather clinical and radiographic information from enrolled patients to analyze the presence and characteristics of CPPD. The main outcome measured is whether chondrocalcinosis is present from the time of enrollment through the screening process. The study is observational and does not involve treatment interventions. Participant involvement includes imaging assessments and data collection, with monitoring continuing until the CPPD screening is completed.

The Osteoarticular Manifestations in Patients With Gitelman Syndrome